Results 71 to 80 of about 40,110 (209)

Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging

British Journal of Ophthalmology, 2017
Purpose Several genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood.
Hongxin Song, E. Rossi, E. Stone, L. Latchney, David Williams, A. Dubra, Mina M. Chung   +6 more
semanticscholar   +1 more source

Injectable Artificial Photoreceptors: STEM Cell Functional Integration and in vivo Electrophysiological Validation in Retinal Degeneration Models

Small Science, Volume 6, Issue 8, August 2026.
Artificial photoreceptors are engineered to efficiently absorb light, with the strongest sensitivity in the green region of the visible spectrum. Upon illumination, they generate electrical signals that activate retinal ganglion cells, which are typically unaffected by disease, enabling transmission of visual information to the brain.
Afshin Izadian, Ali Torkashvand, Benjamin Allan McCall, Yong Gao, Christine M. Taylor, Fateme Karimi Hafshejani, Arupratan Das, Michelle L. Surma, Sunland Gong, Amir Reza Hajrasouliha   +9 more
wiley   +1 more source

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

BMC Medical Genetics, 2017
Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
doaj   +1 more source

Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio, Camille Vatier, Émilie Capel, Carine Beaupère, Martine Auclair, Virginie Steunou, Romain Morichon, Michael Joubert, Corinne Vigouroux, Jérémie Gautheron, Isabelle Jéru   +10 more
wiley   +1 more source

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.
Tyler Etheridge, Elizabeth R. Kellom, Rachel Sullivan, James N. Ver Hoeve, Melanie A. Schmitt   +4 more
doaj   +1 more source

Cone dystrophy associated with autoimmune polyglandular syndrome type 1

Scientific Reports, 2023
To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous ...
Abdulrahman Badawi, Moustafa Magliyah, Omar Alabbasi, Lama AlAbdi, Fowzan S. Alkuraya, Patrik Schatz, Hani Basher ALBalawi, Marco Mura   +7 more
doaj   +1 more source

ApoE‐ and Cfh‐deficient mice exhibit structural and molecular features of human early–intermediate retinal degeneration

Animal Models and Experimental Medicine, Volume 9, Issue 7, Page 1420-1435, July 2026.
Age‐related macular degeneration (AMD) involves lipid dysregulation and complement overactivation. Here, we characterize a double‐knockout ApoE−/−/Cfh−/− mouse as a model of early–intermediate retinal degeneration. These mice exhibit retinal pigment epithelium thinning, Bruch's membrane thickening, lipid accumulation, enhanced C5b‐9 deposition ...
Sergio Recalde, Maite Moreno Orduña, Jaione Bezunartea, Idoia Belza, Ainara Chas, Laura Fernández‐Sánchez, Nicolás Cuenca Navarro, Alfredo García‐Layana, Patricia Fernández‐Robredo, María Hernández   +9 more
wiley   +1 more source

Rod-cone dystrophy with myriad systemic manifestations

Oman Journal of Ophthalmology
Rod-cone dystrophy (RCD) is an inherited retinal disorder primarily affecting rod photoreceptors, followed by cone degeneration. We present the case of a 26-year-old male with RCD and multiple systemic abnormalities (atrial septal defect, hypogonadism ...
Goudappa Patil, Premika Pandarasamy, N. V. S. Krishna Reddy, Pratyusha Ganne   +3 more
doaj   +1 more source

Localization of Ceramide Synthase 5 in Mouse Retina

Journal of Comparative Neurology, Volume 534, Issue 7, July 2026.
CerS5 localizes to amacrine cells, horizontal cells, and retinal ganglion cells in the mouse retina. Its deficiency reduces C16‐ceramide and causes retinal thinning without functional ERG deficits, suggesting a structural role for CerS5 in retinal integrity. .
Soo‐Jin Song, Jae‐Hyun Koo, Hee‐Yeon Kim, Joo‐Won Park, Sun‐Sook Paik, In‐Beom Kim, Jung‐A. Shin   +6 more
wiley   +1 more source

Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

MedComm, Volume 7, Issue 7, July 2026.
Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang, Yiqiong Song, Ziyang Wang, Ke Chao, Lifeng Li, Xu Zhang, Xiaoran Duan, Chenglong Yu, Ruyue Xue, Jie Zhao   +9 more
wiley   +1 more source